Presencia de la mutación BRAFV600E en nódulos tiroideos, y su relación con el diagnóstico citológico y anatomopatológico de carcinoma de tiroides
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Martín Ríos, Angela Milena
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El propósito de este estudio fue el determinar el estado de la mutación BRAFV600E en muestras de aspirado de nódulo tiroideo, mediante el uso de las técnicas de PCR en tiempo real y secuenciación. Se incluyeron 220 muestras de 181 pacientes provenientes de las ciudades de Medellín, Barranquilla y Bogotá. Se describieron las características clínicopatológicas de la población (sexo, edad, antecedente de cáncer tiroideo, antecedente de enfermedad tiroidea, tamaño del nódulo). Se realizó la correlación entre el estado de la mutación BRAFV600E y el diagnóstico de citología de ACAF y patología de pieza quirúrgica de las muestras disponibles. 16 muestras (7.2%) fueron positivas para BRAFV600E, de las cuales 10 fueron benignas por ACAF, 4 malignas (dos carcinomas papilares, dos carcinomas foliculares), 1 indeterminado, y 1 sin diagnóstico disponible. De 11 muestras detectadas por PCR, 3 fueron confirmadas también por secuenciación. En las muestras catalogadas como malignas por ACAF, no se dispuso de la totalidad de los resultados de patología de la pieza quirúrgica, por lo que no se calculó sensibilidad ni especificidad de las pruebas. Se encontraron dos muestras con mutación K601E. Se concluye que las técnicas evaluadas son adecuadas para la detección de la mutación BRAFV600E, sin embargo, se requiere obtener el resultado de patología para determinar la exactitud de las pruebas.
Abstract The objective of this study was to determine the mutational status of BRAFV600E in FNA samples, using Real Time PCR and Sanger sequencing. 220 samples from 181 patients were included, from Medellin, Barranquilla and Bogota cities. Clinical and pathological features from the population sample were described (sex, age, thyroid cancer history, previous thyroid disease, nodule size). Correlation between mutational status of BRAFV600E and FNA cytology, and between mutational status and histopathology result were done. 16 FNA samples (7.2%) were BRAFV600E positive, 10 FNA samples were benign, 4 were malignant (two papillary carcinoma, two follicular carcinoma), 1 was indeterminate, and 1 has no available cytology result. From 11 positive samples detected by PCR, 3 were confirmed by sequencing. The histopathology confirmation of the whole amount of samples with malignant classification by FNA were not available, and sensitivity and specificity could not be calculated. Two samples were BRAFK601E mutation carriers. The evaluated techniques are adequate to detect BRAFV600E mutation, however, histology results must be evaluated in order to estimate the accuracy of these techniques.
Abstract The objective of this study was to determine the mutational status of BRAFV600E in FNA samples, using Real Time PCR and Sanger sequencing. 220 samples from 181 patients were included, from Medellin, Barranquilla and Bogota cities. Clinical and pathological features from the population sample were described (sex, age, thyroid cancer history, previous thyroid disease, nodule size). Correlation between mutational status of BRAFV600E and FNA cytology, and between mutational status and histopathology result were done. 16 FNA samples (7.2%) were BRAFV600E positive, 10 FNA samples were benign, 4 were malignant (two papillary carcinoma, two follicular carcinoma), 1 was indeterminate, and 1 has no available cytology result. From 11 positive samples detected by PCR, 3 were confirmed by sequencing. The histopathology confirmation of the whole amount of samples with malignant classification by FNA were not available, and sensitivity and specificity could not be calculated. Two samples were BRAFK601E mutation carriers. The evaluated techniques are adequate to detect BRAFV600E mutation, however, histology results must be evaluated in order to estimate the accuracy of these techniques.
Abstract
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Aspiración con aguja fina; Nódulo tiroideo; Carcinoma papilar de tiroides; Proto oncogén BRAF; Reacción en cadena de la polimerasa en tiempo real; Análisis de secuenciación de ADN; Fine needle aspiration biopsy; Papillary thyroid cancer; Thyroid nodule; BRAF proto oncogene; Real time polymerase chain reaction; DNA sequence analysis